Alport syndrome - intellectual deficit - midface hypoplasia - elliptocytosis

General Information (adopted from Orphanet):

Synonyms, Signs: ATS-MR
ALPORT SYNDROME, MENTAL RETARDATION, MIDFACE HYPOPLASIA, AND ELLIPTOCYTOSIS
CHROMOSOME Xq22.3 TELOMERIC DELETION SYNDROME
AMME syndrome
AMME complex
Number of Symptoms 25
OrphanetNr: 86818
OMIM Id: 300194
ICD-10: Q87.8
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: X-linked recessive
[Orphanet]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: Multiple congenital anomalies/dysmorphic syndrome-intellectual deficit
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
Partial deletion of the long arm of chromosome X
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
Rare constitutional hemolytic anemia
 -Rare genetic disease
 -Rare hematologic disease
X-linked syndromic intellectual deficit
 -Rare genetic disease
 -Rare neurologic disease

Symptom Information: Sort by abundance 

1
 (HPO:0000790) Hematuria Very frequent [Orphanet] 106 / 7739
2
 (HPO:0000093) Proteinuria Very frequent [Orphanet] 169 / 7739
3
 (HPO:0000083) Renal insufficiency Frequent [Orphanet] 232 / 7739
4
 (HPO:0100820) Glomerulopathy Very frequent [Orphanet] 46 / 7739
5
 (HPO:0011800) Midface retrusion Very frequent [Orphanet] 221 / 7739
6
 (HPO:0000233) Thin vermilion border Frequent [Orphanet] 124 / 7739
7
 (HPO:0000494) Downslanted palpebral fissures Very frequent [Orphanet] 328 / 7739
8
 (HPO:0005280) Depressed nasal bridge Very frequent [Orphanet] 381 / 7739
9
 (HPO:0000463) Anteverted nares Very frequent [Orphanet] 305 / 7739
10
 (HPO:0012471) Thick vermilion border Frequent [Orphanet] 115 / 7739
11
 (HPO:0011069) Increased number of teeth Occasional [Orphanet] 39 / 7739
12
 (HPO:0000486) Strabismus Occasional [Orphanet] 576 / 7739
13
 (HPO:0000545) Myopia Occasional [Orphanet] 286 / 7739
14
 (HPO:0000365) Hearing impairment Frequent [Orphanet] 539 / 7739
15
 (HPO:0001249) Intellectual disability 1089 / 7739
16
 (HPO:0001182) Tapered finger Frequent [Orphanet] 93 / 7739
17
 (HPO:0000944) Abnormality of the metaphyses Occasional [Orphanet] 141 / 7739
18
 (HPO:0001595) Abnormality of the hair Very frequent [Orphanet] 89 / 7739
19
 (HPO:0001643) Patent ductus arteriosus Occasional [Orphanet] 228 / 7739
20
 (HPO:0001646) Abnormality of the aortic valve Occasional [Orphanet] 55 / 7739
21
 (HPO:0004445) Elliptocytosis 15 / 7739
22
 (HPO:0004447) Poikilocytosis Frequent [Orphanet] 16 / 7739
23
 (HPO:0003220) Abnormality of chromosome stability Very frequent [Orphanet] 98 / 7739
24
 (HPO:0001252) Muscular hypotonia Frequent [Orphanet] 990 / 7739
25
 (HPO:0012758) Neurodevelopmental delay Very frequent [Orphanet] 949 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Robson et al. (1994) described a family in which 2 brothers and a maternal uncle had mental retardation and macrocephaly in addition to nephritis and sensorineural hearing loss. In one of the brothers, microscopic hematuria and red blood ...
Molecular genetics OMIM Molecular characterization by Jonsson et al. (1998) of their family suggested a submicroscopic deletion of the X chromosome including the COL4A5 gene (303630). Jonsson et al. (1998) proposed that the additional features in the affected males might be ...